ARHGEF6 gene

Rac/Cdc42 guanine nucleotide exchange factor 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]

From UniProt:

Acts as a RAC1 guanine nucleotide exchange factor (GEF).

From NCBI Gene:

  • Mental retardation 46, X-linked

From UniProt:

Mental retardation, X-linked 46 (MRX46): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. [MIM:300436]

Cytogenetic Location: Xq26.3, which is the long (q) arm of the X chromosome at position 26.3

Molecular Location: base pairs 136,665,547 to 136,781,656 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq26.3, which is the long (q) arm of the X chromosome at position 26.3
  • alpha-PIX
  • alphaPIX
  • Cool-2
  • COOL2
  • MRX46
  • PIXA